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Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.
A child diagnosed as having transient phenylketonuria was found to have reduced synthesis of tetrahydrobiopterin and an abnormal clearance of phenylalanine, but he remained clinically normal when on a normal diet. A small amount of 7,8-dihydrobiopterin was found in his serum; this distinguishes the...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
1980
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1627059/ https://ncbi.nlm.nih.gov/pubmed/7436521 |
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